Canonical Allele Identifier: CA391933679

Gene: SPRED1

Linked Data

• MyVariant Identifiers: chr15:g.38643511A>T (hg19) ; chr15:g.38351310A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351310A>T , CM000677.2:g.38351310A>T	GRCh38
NC_000015.9:g.38643511A>T , CM000677.1:g.38643511A>T	GRCh37
NC_000015.8:g.36430803A>T	NCBI36
NG_008980.1:g.103460A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.981A>T MANE Select	ENSP00000299084.4:p.Lys327Asn
ENST00000299084.8:c.981A>T	ENSP00000299084.4:p.Lys327Asn
NM_152594.2:c.981A>T	NP_689807.1:p.Lys327Asn
XM_005254202.2:c.1017A>T	XP_005254259.1:p.Lys339Asn
XM_005254203.3:c.759A>T	XP_005254260.1:p.Lys253Asn
XM_011521288.1:c.918A>T	XP_011519590.1:p.Lys306Asn
XM_011521289.1:c.918A>T	XP_011519591.1:p.Lys306Asn
XM_011521290.1:c.918A>T	XP_011519592.1:p.Lys306Asn
XM_005254202.3:c.1017A>T	XP_005254259.1:p.Lys339Asn
XM_011521289.3:c.918A>T	XP_011519591.1:p.Lys306Asn
NM_152594.3:c.981A>T MANE Select	NP_689807.1:p.Lys327Asn